rs61750130, ABCA4

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.800 1.000 20 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
2 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
CUI: C4692584
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
1 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.700 0
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.010 1 2014 2014